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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

http://www.wikidata.org/entity/Q21145278

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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.CNV and nervous system diseases--what's new?The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Disruption of the neurexin 1 gene is associated with schizophrenia Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children Paired-end mapping reveals extensive structural variation in the human genome Targeted chromosomal deletions in human cells using zinc finger nucleases Global variation in copy number in the human genome Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Multiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNA Human molecular cytogenetics: From cells to nucleotides A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men Copy number variations and stroke Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease Lamin B1 duplications cause autosomal dominant leukodystrophy Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange Using mouse models of autism spectrum disorders to study the neurotoxicology of gene-environment interactions Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells Improved genome inference in the MHC using a population reference graph Comparative genomics reveals molecular features unique to the songbird lineage.LINE-1 elements in structural variation and disease Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution Reduced purifying selection prevails over positive selection in human copy number variant evolution Atypical haemolytic uraemic syndrome associated with a hybrid complement gene Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Genome-wide association study of copy number variations (CNVs) with opioid dependence.Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration Genome-wide association study identified copy number variants important for appendicular lean mass.Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking Copy number variation in CNP267 region may be associated with hip bone size.Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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2005 nî lūn-bûn

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2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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James R Lupski

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Pawel Stankiewicz

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Creative Commons Attribution 4.0 International

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Finishing the euchromatic sequence of the human genome

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Detection of large-scale variation in the human genome

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Segmental duplications and copy-number variation in the human genome.

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

Large-scale copy number polymorphism in the human genome

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

Interstitial deletion of (17)(p11.2p11.2) in nine patients

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genetic disease

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